A feasibility study of prenatal diagnosis of β thalassaemia in a northern Italian population has been carried out. Twenty-five families have been studied, each consisting of two parents and a homozygous β thalassaemia child, thus enabling linkage analysis of restriction fragment length polymorphisms (RFLPs) to the normal and the thalassaemic chromosomes. Using seven standard RFLPs, 19/25 families could be offered prenatal diagnosis; inclusion of the recently described Ava IIψβ polymorphism increased this figure to 23/25 (92%) of the families.
|Number of pages||6|
|Journal||British Journal of Haematology|
|Publication status||Published - 1986|
ASJC Scopus subject areas